人类染色体1q24的一个2.2兆碱基对片段的序列就绪细菌人工染色体（BAC）克隆重叠群
A sequence-ready BAC clone contig of a 2.2-Mb segment of human chromosome 1q24.
作者信息
Vollrath D, Jaramillo-Babb V L
机构信息
Department of Genetics, Stanford University School of Medicine, Stanford, California 94305 USA.
出版信息
Genome Res. 1999 Feb;9(2):150-7.
Human chromosomal region 1q24 encodes two cloned disease genes and lies within large genetic inclusion intervals for several disease genes that have yet to be identified. We have constructed a single bacterial artificial chromosome (BAC) clone contig that spans over 2 Mb of 1q24 and consists of 78 clones connected by 100 STSs. The average density of mapped STSs is one of the highest described for a multimegabase region of the human genome. The contig was efficiently constructed by generating STSs from clone ends, followed by library walking. Distance information was added by determining the insert sizes of all clones, and expressed sequence tags (ESTs) and genes were incorporated to create a partial transcript map of the region, providing candidate genes for local disease loci. The gene order and content of the region provide insight into ancient duplication events that have occurred on proximal 1q. The stage is now set for further elucidation of this interesting region through large-scale sequencing.
人类染色体区域1q24编码两个已克隆的疾病基因，并且位于几个尚未鉴定的疾病基因的大遗传包含区间内。我们构建了一个单一的细菌人工染色体（BAC）克隆重叠群，其跨越1q24的2 Mb以上，由78个克隆组成，这些克隆通过100个序列标签位点（STS）相连。已定位的STS的平均密度是人类基因组多兆碱基区域中描述的最高密度之一。通过从克隆末端生成STS，然后进行文库步移，有效地构建了重叠群。通过确定所有克隆的插入片段大小添加距离信息，并纳入表达序列标签（EST）和基因以创建该区域的部分转录图谱，为局部疾病位点提供候选基因。该区域的基因顺序和内容有助于深入了解1q近端发生的古代重复事件。现在已经为通过大规模测序进一步阐明这个有趣的区域做好了准备。
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